[Development of an original computer program FISHMet: use for molecular cytogenetic diagnosis and genome mapping by fluorescent in situ hybridization (FISH)]. / Razrabotka original'noi kompiuternoi programmy "FISHMet": primenenie dlia molekuliarno-tsitogeneticheskoi diagnostiki i kartirovaniia genoma s pomoshch'iu metoda fliuorestsentnoi gibridizatsii in situ (FISH).

Original software FISHMet has been developed and tried for improving the efficiency of diagnosis of hereditary diseases caused by chromosome aberrations and for chromosome mapping by fluorescent in situ hybridization (FISH) method. The program allows creation and analysis of pseudocolor chromosome images and hybridization signals in the Windows 95 system, allows computer analysis and editing of the results of pseudocolor hybridization in situ, including successive imposition of initial black-and-white images created using fluorescent filters (blue, green, and red), and editing of each image individually or of a summary pseudocolor image in BMP, TIFF, and JPEG formats. Components of image computer analysis system (LOMO, Leitz Ortoplan, and Axioplan fluorescent microscopes, COHU 4910 and Sanyo VCB-3512P CCD cameras, Miro-Video, Scion LG-3 and VG-5 image capture maps, and Pentium 100 and Pentium 200 computers) and specialized software for image capture and visualization (Scion Image PC and Video-Cup) have been used with good results in the study.

[Computer systems in supporting the operation of medico-genetic establishments]. / Komp'iuternye sistemy v obespechenii raboty mediko-geneticheskikh uchrezhdenii.

Nowadays there is a transition from the automation of some tasks to a complex computerization of medicogenetic service in Russia on the basis of the Federal genetic register. The system is multifunctional and ensures the keeping all medical records. It is realized through the corporate global network. The operations performed will also provide an intellectual support of medical geneticists' decisions.

[Conception and implementation of the federal computer system for families with hereditary diseases]. / Kontseptsiia i realizatsiia federal'noi komp'iuternoi sistemy dlia semei s nasledstvennymi zabolevaniiami.

The Federal Genetic Register (FGR) is a multi-functional system. It will be realized in a form of a corporative network. The main goals of FGR are prophylactic medical examinations, support of a doctor's decision about a genetic risk in families with inherited diseases, monitoring of congenital anomalies and hereditary diseases, supply of data. The system is created using Microsoft Visual FoxPro 3.0 and Visual C++2.1. The operating system Windows NT will conform to that of interregional centers/consultation and Windows for Workgroup 3.11 or Windows'95 will conform to that of regional consultation.

[The concept of a common medical information space: a new technology of integrated data for the improvement of health]. / Kontseptsiia edinogo informatsionnogo meditsinskogo prostranstva: novaia tekhnologiia integratsii dannykh o sostoianii zdorovía.

The concept of the common medical information space proposes that there are available health data kept in the data bases of various automatic medical systems. This data integration is achieved by integrating computers into the network, which will make a regular exchange of data among the functionally related medical institutions. The above concept of the common medical informational space is a basis for organizing a comprehensive monitoring for the health status of children (including the ecomedical aspect) at the basically new technological level, creating conditions for practical implementation of the concept of the continuum of the developing body's states, which will take into account the influence of many interacting factors on the developing fetus and child.

[Automated genetic register and computer support for the physician's diagnostic decisions]. / Avtomatizirovannyi geneticheskii registr i komp'iuternaia podderzhka diagnosticheskikh reshenii vracha.

Computer-based genetical register "GENREG" allows to carry out a prophylactic medical examination for families with children, having hereditary diseases, multifactorial pathology and congenital developmental defects of various nature, and also epidemiological examination. Automated consultative system for pre-laboratory diagnosis of genetically determined diseases after the phenotypical manifestations "DIAGEN" allows to identify up to 1200 nosologic units; diagnostic value (or weight) of the signs according to physician's evaluation is taken into consideration. The system sorts out a narrow differential-and-diagnostic row and information about specific laboratory and functional changes for every selected diagnosis. Efficiency of the system is over 94% (after the next laboratory findings). The results of computer diagnosis and final physician's diagnosis, and also questionnaire of a child are stored in archives (files) of the "DIAGEN" system. Both of the systems are realized on PC/AT IBM-compatible computer.

[Automated information-diagnostic system for hereditary diseases in childhood]. / Avtomatizirovannaia informatsionno-diagnosticheskaia sistema po nasledstvennym zabolevaniiam v detskom vozraste.

This article describes computer-based information-and-diagnostic system dealing with child hereditary diseases which makes in possible to organize automated consultative service on a wide range of monogene and chromosome syndromes. The system is oriented for sorting out a narrow differential-and-diagnostic row from 1200 of genetically determined diseases at the stage of pre-laboratory child examination. The choice of diagnoses in the system is based on the analysis of the likeness of phenotypical manifestation of the syndromes described in literature with the case under analysis. The system envisages information exchange with a physician in a dialogue using the natural language. The system is based on IBM-370 computer and can be operated from remote video device in the data TV transmitting mode.

[An automated system of preventive care of the juvenile population: structure and functions]. / Avtomatizirovannaia sistema dispanserizatsii detskogo naseleniia: struktura i funktsii.

Automated system of prophylactic medical examination to be used on three levels of service, with a polyclinic as a starting point. The developed system includes: management of preventive check-ups, formation of groups with risk for pathologic conditions and management of a second-time medical examination. Use of this medico-technological system, according to its results, permits to increase the effect and purposefulness of prophylactic medical examinations in children.

[Prospective and retrospective analysis of prognosis in perinatal hypoxic lesions of the brain]. / Prospektivnyi i retrospektivnyi analiz prognoza perinatal'nykh gipoksicheskikh porazhenii mozga.

The article presents data on the prospective and retrospective analysis of the dynamic structure of neurological syndromes in 211 children with perinatal hypoxic lesions of the brain in the preschool period. The complex of examinations included electroencephalography, echoencephalography, psychological examination, as well as measurement of lipid peroxidation products and immunoglobulin levels in the cerebrospinal fluid. It has been demonstrated that transformation of neurological symptom complexes at the most important stages of postnatal ontogenesis plays the decisive diagnostic and prognostic role. On the basis of the findings the authors consider optimal terms for screening children with a history of perinatal hypoxic impairment of the nervous system.

[Significance of risk factors in the development and formation of permanent organic lesions of the central nervous system in infants during the 1st few months of life]. / Znachenie faktorov riska vozniknoveniia i formirovaniia stoikogo organicheskogo porazheniia tsentral'noi nervnoi sistemy u detei pervykh mesiatsev zhizni.

Data obtained from examining 350 full-term newborns and infants of up to 4 months of age with pre- and perinatal encephalopathies were processed mathematically. As a result, factors pointing to a high risk of development of functional cerebral disorders and formation of early organic syndromes in infants of the first 4 months of life were specified. As the basis for this a chart devised with the aid of the expert evaluation method was taken. The chart included 42 signs with 98 gradations (occupational unhealthy factors, family and obstetrical history, course of pregnancy and childbirth, clinical characteristics of the neurological manifestations in the acute and early restorative periods). A high prognostic value of combining some factors, symptom complexes, clinical and laboratory findings is demonstrated: such combinations are very important for early diagnosis of organic cerebral pathologies. The use of those combinations has made it possible to identify (with the aid of a computer) 95.6% of infants with a threat of early development of organic changes in the central nervous system.

[Mathematical approach to the differential diagnosis of phenotypically similar hereditary diseases]. / O matematicheskom podkhode k differentsial'noi diagnostike fenotipicheski skhodnykh nasledstvennykh zabolevanii.

The paper, which is based on the report made at XIV International Genetical Congress, concerns the problems of applying mathematical methods in differential diagnosis of relatively rare hereditary diseases (Marfan's disease, homocystinuria, mucopolysaccharidosis, epiphyseal dysplasias) and in analysis of phenotypical differences in dominant and recessive type of inheritance. Results of algorithmic mechanisms of detection, which provide a diagnosis during establishment of phenotypically homogeneous subgroups of patients within existing nosologic entities, are discussed. With such an approach, efficiency of diagnosis reaches 90% and more. In case of various possible modes of inheriting a disease with a genealogic history fragmentary or absent the authors propose that determining a possible type of hereditary transmission should be approached by analysis of phenotypical similarity of difference with reference to patients with cleared dominant or recessive type of inheritance. The latter is based on the discovery of phenotypical difference between patients with differing types of transmission of the mutant genes.